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1. Full Text Cancer-associated ASXL1 mutations may act as gain-of-function mutations of the ASXL1-BAP1 complex
by Balasubramani, Anand and Larjo, Antti and Bassein, Jed A and Chang, Xing and Hastie, Ryan B and Togher, Susan M and Lähdesmäki, Harri and Rao, Anjana
Nature communications, ISSN 2041-1723, 06/2015, Volume 6, Issue 1, pp. 7307 - 7307
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Promoter Regions, Genetic | Tumor Suppressor Proteins - metabolism | Craniosynostoses - genetics | Humans | Leukemia, Myeloid - genetics | Mice, Inbred C57BL | Repressor Proteins - genetics | Hematopoietic Stem Cells - metabolism | Intellectual Disability - genetics | Cell Differentiation - genetics | Animals | Bone Marrow Cells | Hematopoietic Stem Cells - cytology | HEK293 Cells | Mast Cells - metabolism | Mast Cells - cytology | Ubiquitin Thiolesterase - metabolism | Mice | Histones - metabolism | Mutation | Repressor Proteins - metabolism | Index Medicus
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2. Full Text Exome sequencing of desmoplastic melanoma identifies recurrent NFKBIE promoter mutations and diverse activating mutations in the MAPK pathway
by Shain, A. Hunter and Garrido, Maria and Botton, Thomas and Talevich, Eric and Yeh, Iwei and Sanborn, J Zachary and Chung, Jongsuk and Wang, Nicholas J and Kakavand, Hojabr and Mann, Graham J and Thompson, John F and Wiesner, Thomas and Roy, Ritu and Olshen, Adam B and Gagnon, Alexander and Gray, Joe W and Huh, Nam and Hur, Joe S and Busam, Klaus J and Scolyer, Richard A and Cho, Raymond J and Murali, Rajmohan and Bastian, Boris C
Nature genetics, ISSN 1061-4036, 09/2015, Volume 47, Issue 10, pp. 1194 - 1199
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Exome | Promoter Regions, Genetic | Melanoma - genetics | Humans | Melanoma - enzymology | Proto-Oncogene Proteins - genetics | Melanoma - pathology | Mutation | I-kappa B Proteins - genetics | MAP Kinase Signaling System | Gene mutations | Exome sequencing | Melanoma | Development and progression | Genetic aspects | Identification and classification | Methods | Index Medicus
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3. Full Text Cancer-derived p53 mutants suppress p53-target gene expression-potential mechanism for gain of function of mutant p53
by Vikhanskaya, Faina and Lee, Ming Kei and Mazzoletti, Marco and Broggini, Massimo and Sabapathy, Kanaga
Nucleic acids research, ISSN 0305-1048, 3/2007, Volume 35, Issue 6, pp. 2093 - 2104
Life Sciences & Biomedicine | Biochemistry & Molecular Biology | Science & Technology | Promoter Regions, Genetic | Tumor Suppressor Protein p53 - antagonists & inhibitors | Down-Regulation | Humans | Enzyme Inhibitors - pharmacology | Gene Expression Regulation, Neoplastic | Tumor Suppressor Protein p53 - metabolism | Genes, p53 | Cyclin-Dependent Kinase Inhibitor p21 - genetics | Neoplasms - genetics | RNA Interference | Cell Line, Tumor | Histone Deacetylase Inhibitors | Mutation | Binding Sites | Hydroxamic Acids - pharmacology | Apoptosis | Index Medicus | Molecular Biology
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4. Full Text Medulloblastoma exome sequencing uncovers subtype-specific somatic mutations
by Pugh, Trevor J and Pugh, Trevor J and Weeraratne, Shyamal Dilhan and Weeraratne, Shyamal Dilhan and Archer, Tenley C and Archer, Tenley C and Pomeranz Krummel, Daniel A and Auclair, Daniel and Bochicchio, James and Carneiro, Mauricio O and Carter, Scott L and Cibulskis, Kristian and Erlich, Rachel L and Greulich, Heidi and Greulich, Heidi and Lawrence, Michael S and Lawrence, Michael S and Lennon, Niall J and McKenna, Aaron and Mc Kenna, Aaron and Meldrim, James and Ramos, Alex H and Ross, Michael G and Russ, Carsten and Shefler, Erica and Sivachenko, Andrey and Sogoloff, Brian and Stojanov, Petar and Tamayo, Pablo and Mesirov, Jill P and Mesirov, Jill P and Amani, Vladimir and Amani, Vladimir and Teider, Natalia and Teider, Natalia and Sengupta, Soma and Sengupta, Soma and Francois, Jessica Pierre and Francois, Jessica Pierre and Northcott, Paul A and Northcott, Paul A and Taylor, Michael D and Yu, Furong and Crabtree, Gerald R and Kautzman, Amanda G and Gabriel, Stacey B and Getz, Gad and Jäger, Natalie and Jones, David T. W and Lichter, Peter and Pfister, Stefan M and Roberts, Thomas M and Meyerson, Matthew and Meyerson, Matthew and Pomeroy, Scott L and Pomeroy, Scott L and Cho, Yoon-Jae and Cho, Yoon-Jae
Nature (London), ISSN 0028-0836, 08/2012, Volume 488, Issue 7409, pp. 106 - 110
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Neurology | Biological and medical sciences | General aspects | Medical sciences | Tumors of the nervous system. Phacomatoses | Transcription Factors - chemistry | Humans | Hedgehog Proteins - metabolism | Wnt Proteins - metabolism | Promoter Regions, Genetic - genetics | Tumor Suppressor Protein p53 - genetics | TCF Transcription Factors - metabolism | Patched Receptors | Cerebellar Neoplasms - classification | DEAD-box RNA Helicases - metabolism | Medulloblastoma - genetics | Neoplasm Proteins - genetics | Nuclear Proteins - genetics | Child | DEAD-box RNA Helicases - chemistry | DNA Helicases - genetics | Intracellular Signaling Peptides and Proteins - genetics | DNA Helicases - chemistry | Histone-Lysine N-Methyltransferase - genetics | Signal Transduction | Models, Molecular | Repressor Proteins - genetics | Proto-Oncogene Proteins - genetics | Protein Structure, Tertiary - genetics | Cerebellar Neoplasms - genetics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Mutation - genetics | Nuclear Proteins - chemistry | beta Catenin - metabolism | Genome, Human - genetics | beta Catenin - genetics | DEAD-box RNA Helicases - genetics | Exome - genetics | Histone Methyltransferases | Histone-Lysine N-Methyltransferase - metabolism | LIM Domain Proteins - genetics | Medulloblastoma - classification | Patched-1 Receptor | Receptors, Cell Surface - genetics | Medulloblastoma | Physiological aspects | Development and progression | Genetic aspects | Research | Nucleotide sequencing | Metastasis | DNA sequencing | Cancer | Index Medicus
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5. Full Text Prognostic effects of TERT promoter mutations are enhanced by coexistence with BRAF or RAS mutations and strengthen the risk prediction by the ATA or TNM staging system in differentiated thyroid cancer patients
by Song, Young Shin and Lim, Jung Ah and Choi, Hoonsung and Won, Jae‐Kyung and Moon, Jae Hoon and Cho, Sun Wook and Lee, Kyu Eun and Park, Young Joo and Yi, Ka Hee and Park, Do Joon and Seo, Jeong‐Sun
Cancer, ISSN 0008-543X, 05/2016, Volume 122, Issue 9, pp. 1370 - 1379
recurrence | mortality | telomerase reverse transcriptase (TERT) promoter mutations | differentiated thyroid cancer | prognosis | Life Sciences & Biomedicine | Oncology | Science & Technology | Prognosis | Thyroid Neoplasms - mortality | Follow-Up Studies | Humans | Middle Aged | Male | Neoplasm Recurrence, Local - mortality | Neoplasm Recurrence, Local - pathology | Thyroid Neoplasms - genetics | Telomerase - genetics | Time Factors | Proto-Oncogene Proteins B-raf - genetics | Adult | Female | Neoplasm Recurrence, Local - genetics | Mutation | Genes, ras | Neoplasm Staging | Thyroid Neoplasms - pathology | Thyroid cancer | Analysis | Genetic aspects | Metastasis | Diagnosis | Telomerase | Risk factors | Cancer | Index Medicus | Abridged Index Medicus
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6. Full Text TERT promoter mutations in thyroid cancer
by Liu, Rengyun and Xing, Mingzhao
Endocrine-related cancer, ISSN 1351-0088, 03/2016, Volume 23, Issue 3, pp. R143 - R155
Review | Thyroid cancer | S prognosis | TERT promoter mutation | Diagnosis | Genetic molecular marker | Telomerase reverse | Transcriptase | BRAF V600E mutation | Oncology | Endocrinology & Metabolism | Life Sciences & Biomedicine | Science & Technology | Promoter Regions, Genetic | Thyroid Neoplasms - genetics | ras Proteins - genetics | Telomerase - genetics | Proto-Oncogene Proteins B-raf - genetics | Humans | Mutation | Index Medicus | genetic molecular markers | diagnosis | thyroid cancer | telomerase reverse transcriptase | prognosis
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7. Full Text A Novel Frameshift Mutation at Codon 2 (-T) (HBB: c.9delT) and First Report of Three New β-Globin Mutations From Azerbaijan
by Bayramov, Bayram and Aliyeva, Gunay and Asadov, Chingiz and Mammadova, Tahira and Karimova, Nigar and Eynullazadeh, Khagani and Gafarova, Surmaya and Akbarov, Seymur and Farhadova, Sabina and Safarzadeh, Zumrud and Abbasov, Mehraj
Hemoglobin, ISSN 0363-0269, 09/2019, Volume 43, Issue 4-5, pp. 280 - 282
Frameshift mutation | Hb Dhonburi | initiation codon | HBB promoter | Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Hematology | Science & Technology | Azerbaijan | Phenotype | Codon | Frameshift Mutation | Humans | beta-Thalassemia - genetics | Female | Heterozygote | Male | Mutation | Promoter Regions, Genetic - genetics | beta-Globins - genetics | Index Medicus
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8. Full Text Emergence of KRAS mutations and acquired resistance to anti-EGFR therapy in colorectal cancer
by Misale, Sandra and Yaeger, Rona and Hobor, Sebastijan and Scala, Elisa and Janakiraman, Manickam and Liska, David and Valtorta, Emanuele and Schiavo, Roberta and Buscarino, Michela and Siravegna, Giulia and Bencardino, Katia and Cercek, Andrea and Chen, Chin-Tung and Veronese, Silvio and Zanon, Carlo and Sartore-Bianchi, Andrea and Gambacorta, Marcello and Gallicchio, Margherita and Vakiani, Efsevia and Boscaro, Valentina and Medico, Enzo and Weiser, Martin and Siena, Salvatore and Di Nicolantonio, Federica and Solit, David and Bardelli, Alberto
Nature (London), ISSN 0028-0836, 06/2012, Volume 486, Issue 7404, pp. 532 - 536
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Gastroenterology. Liver. Pancreas. Abdomen | Stomach. Duodenum. Small intestine. Colon. Rectum. Anus | Immunotherapy | Pharmacology. Drug treatments | Biological and medical sciences | Medical sciences | Antineoplastic agents | Tumors | ras Proteins - genetics | Proto-Oncogene Proteins p21(ras) | ErbB Receptors - antagonists & inhibitors | Antibodies, Monoclonal - pharmacology | Colorectal Neoplasms - genetics | Humans | Panitumumab | Mitogen-Activated Protein Kinase Kinases - antagonists & inhibitors | Antibodies, Monoclonal - therapeutic use | Proto-Oncogene Proteins - genetics | Mutation - genetics | Promoter Regions, Genetic - genetics | Disease Progression | Antibodies, Monoclonal, Humanized | Drug Resistance, Neoplasm - genetics | Colorectal Neoplasms - drug therapy | Alleles | Cell Line, Tumor | Cetuximab | Colorectal Neoplasms - pathology | Drug Resistance, Neoplasm - drug effects | Genes, ras - genetics | Proteins | Cloning | Mutation | Kinases | Experiments | Cancer therapies | Mass spectrometry | Index Medicus | targeted therapy | KRAS | colorectal cancer | acquired resistance
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9. Full Text Highly Recurrent TERT Promoter Mutations in Human Melanoma
by Franklin W. Huang and Eran Hodis and Mary Jue Xu and Gregory V. Kryukov and Lynda Chin and Levi A. Garraway
Science (American Association for the Advancement of Science), ISSN 0036-8075, 2/2013, Volume 339, Issue 6122, pp. 957 - 959
Somatic mutation | Tumor cell line | Transcription factors | Genes | REPORTS | Melanoma | Cell lines | Genetic mutation | Sequencing | Tumors | Cancer | Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Promoter Regions, Genetic | Liver Neoplasms - genetics | Humans | Gene Expression Regulation, Neoplastic | Telomerase - genetics | Cell Transformation, Neoplastic | Melanoma - genetics | Carcinoma, Hepatocellular - genetics | Telomerase - chemistry | Cell Line, Tumor | Telomerase - metabolism | Transcription, Genetic | Proto-Oncogene Proteins c-ets - metabolism | Mutation | Binding Sites | Promoters (Genetics) | Gene mutations | Genetic aspects | Research | Properties | Telomerase | Enzymes | Gene expression | Binding sites | Skin cancer | Index Medicus
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10. Full Text TERT Promoter Mutations in Familial and Sporadic Melanoma
by Susanne Horn and Adina Figl and P. Sivaramakrishna Rachakonda and Christine Fischer and Antje Sucker and Andreas Gast and Stephanie Kadel and Iris Moll and Eduardo Nagore and Kari Hemminki and Dirk Schadendorf and Rajiv Kumar
Science (American Association for the Advancement of Science), ISSN 0036-8075, 2/2013, Volume 339, Issue 6122, pp. 959 - 961
Tumor cell line | Transcription factors | Life expectancy | HIV | DNA | REPORTS | Melanoma | Cell lines | Genetic mutation | Sequencing | Tumors | Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Skin Neoplasms - pathology | Promoter Regions, Genetic | Humans | Gene Expression Regulation, Neoplastic | Male | ets-Domain Protein Elk-4 - metabolism | Sequence Analysis, DNA | Melanoma - secondary | Telomerase - genetics | Melanoma - genetics | Pedigree | ets-Domain Protein Elk-1 - metabolism | Skin Neoplasms - genetics | Telomerase - chemistry | Transcription Initiation Site | Cell Line, Tumor | Germ-Line Mutation | Female | Telomerase - metabolism | Transcription, Genetic | High-Throughput Nucleotide Sequencing | Polymorphism, Single Nucleotide | Proto-Oncogene Proteins c-ets - metabolism | Binding Sites | Promoters (Genetics) | Gene mutations | Genetic aspects | Research | Properties | Telomerase | Enzymes | Mutation | Gene expression | Binding sites | Skin cancer | Index Medicus | Hälsovetenskap | Folkhälsovetenskap, global hälsa, socialmedicin och epidemiologi | Medical and Health Sciences | Medicin och hälsovetenskap | Public Health, Global Health, Social Medicine and Epidemiology | Health Sciences
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